| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Mandibuloacral dysplasia with type A lipodystrophy +12 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Cardiomyopathy +15 more | |
| | | Single nucleotide variant (synonymous variant) | Charcot-Marie-Tooth disease type 2 +4 more | |
| | | Single nucleotide variant (intron variant) | Charcot-Marie-Tooth disease type 2 +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Charcot-Marie-Tooth disease type 2B1 +20 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (synonymous variant) | Dilated cardiomyopathy 1A | |
| | | Single nucleotide variant (splice donor variant) | Charcot-Marie-Tooth disease type 2B1 +12 more | |
| | | Single nucleotide variant (missense variant +1 more) | Dilated cardiomyopathy 1A | |
| | | Single nucleotide variant (missense variant +1 more) | Charcot-Marie-Tooth disease type 2B1 +18 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Desmin-related myofibrillar myopathy +5 more | |
Click to view in NCBI Gene